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Two closely spaced mutations in cis result in Ullrich congenital muscular dystrophy
A 2-year-old boy was diagnosed with Ullrich congenital muscular dystrophy (UCMD) by muscle biopsy. COL6A3 gene analysis by next-generation sequencing revealed two heterozygous splice-site mutations (c.6283-1 G > G/T and c.6310-2 A > A/T), whereas normal mRNA was produced. Genomic DNA analysis...
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| Publicado no: | Hum Genome Var |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group UK
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6486579/ https://ncbi.nlm.nih.gov/pubmed/31044083 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-019-0052-z |
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